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Branchio-Oto-Renal Syndrome (Branchio Oculo Facial Syndrome)

An autosomal dominant disorder manifested by various combinations of preauricular pits, branchial fistulae or cysts, lacrimal duct stenosis, hearing loss, structural defects of the outer, middle, or inner ear, and renal dysplasia. Associated defects include asthenic habitus, long narrow facies, constricted palate, deep overbite, and myopia. Hearing loss may be due to Mondini type cochlear defect and stapes fixation. (Jablonski's Dictionary of Syndromes & Eponymic Diseases, 2d ed)
Also Known As:
Branchio Oculo Facial Syndrome; Syndrome, BOR; BOR Syndrome; Branchio-Otorenal Syndrome; BOR Syndromes; Branchio Oto Renal Syndrome; Branchio Otorenal Dysplasia; Branchio Otorenal Syndrome; Branchio-Oculo-Facial Syndromes; Branchio-Oto-Renal Syndromes; Branchio-Otorenal Dysplasias; Branchio-Otorenal Syndromes; Dysplasia, Branchio-Otorenal; Dysplasias, Branchio-Otorenal; Syndrome, Branchio-Oculo-Facial; Syndrome, Branchio-Oto-Renal; Syndrome, Branchio-Otorenal; Syndromes, BOR; Syndromes, Branchio-Oculo-Facial; Syndromes, Branchio-Oto-Renal; Syndromes, Branchio-Otorenal; Branchio-Oculo-Facial Syndrome; Branchio-Otorenal Dysplasia
Networked: 54 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1. Branchioma (Branchial Cleft Cysts)
2. Hearing Loss (Hearing Impairment)
3. Fistula
4. CHARGE Syndrome
5. Branchio-Oto-Renal Syndrome (Branchio Oculo Facial Syndrome)

Experts

1. Xu, Pin-Xian: 3 articles (03/2010 - 04/2007)
2. Just, Walter: 2 articles (11/2012 - 09/2007)
3. Zou, Dan: 2 articles (11/2008 - 04/2007)
4. Kamei, Koichi: 1 article (11/2014)
5. Ogura, Masao: 1 article (11/2014)
6. Miyazaki, Osamu: 1 article (11/2014)
7. Ito, Shuichi: 1 article (11/2014)
8. Nosaka, Shunsuke: 1 article (11/2014)
9. Basheer, Faisal: 1 article (05/2014)
10. Jalil, Jawad: 1 article (05/2014)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Branchio-Oto-Renal Syndrome:
1. Branchiootorenal syndrome 1IBA
2. Hereditary renal agenesisIBA
3. DNA (Deoxyribonucleic Acid)IBA
4. Transcription Factors (Transcription Factor)IBA
5. Townes-Brocks syndromeIBA
6. Nonsense Codon (Nonsense Mutation)IBA
7. Goldenhar diseaseIBA
8. Pendred syndromeIBA
9. CatatrichyIBA
10. 1,2-cyclohexanediamine (dach)IBA

Therapies and Procedures

1. Cochlear Implantation
2. Ligation
3. Transplants (Transplant)
4. Kidney Transplantation
5. Tracheostomy